WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.129558889_129563134del | CA347331 | OCRL | c.*902_*1536+348del c.727_1361+348del c.610_1244+348del c.658_1292+348del c.261_895+348del c.139_773+348del c.613_1247+348del c.466_1100+348del | ClinVar |
| X | g.129562384G>A | CA414552447 | OCRL | c.*1232G>A (n.*1232G>A) c.1057G>A c.940G>A (p.Val314Ile) c.988G>A c.51G>A c.591G>A c.469G>A (p.Val157Ile) c.943G>A (p.Val315Ile) c.796G>A (p.Val266Ile) | |
| X | g.129562384G>C | CA414552448 | OCRL | c.*1232G>C (n.*1232G>C) c.1057G>C c.940G>C (p.Val314Leu) c.988G>C c.51G>C c.591G>C c.469G>C (p.Val157Leu) c.943G>C (p.Val315Leu) c.796G>C (p.Val266Leu) | |
| X | g.129562384G>T | CA414552449 | OCRL | c.*1232G>T (n.*1232G>T) c.1057G>T c.940G>T (p.Val314Phe) c.988G>T c.51G>T c.591G>T c.469G>T (p.Val157Phe) c.943G>T (p.Val315Phe) c.796G>T (p.Val266Phe) | |
| X | g.129562385T>A | CA414552450 | OCRL | c.*1233T>A (n.*1233T>A) c.1058T>A c.941T>A (p.Val314Asp) c.989T>A c.52T>A c.592T>A c.470T>A (p.Val157Asp) c.944T>A (p.Val315Asp) c.797T>A (p.Val266Asp) | |
| X | g.129562385T>C | CA414552451 | OCRL | c.*1233T>C (n.*1233T>C) c.1058T>C c.941T>C (p.Val314Ala) c.989T>C c.52T>C c.592T>C c.470T>C (p.Val157Ala) c.944T>C (p.Val315Ala) c.797T>C (p.Val266Ala) | |
| X | g.129562385T>G | CA414552452 | OCRL | c.*1233T>G (n.*1233T>G) c.1058T>G c.941T>G (p.Val314Gly) c.989T>G c.52T>G c.592T>G c.470T>G (p.Val157Gly) c.944T>G (p.Val315Gly) c.797T>G (p.Val266Gly) | |
| X | g.129562386T>A | CA518471047 | OCRL | c.*1234T>A (n.*1234T>A) c.1059T>A c.942T>A (p.Val314=) c.990T>A c.53T>A c.593T>A c.471T>A (p.Val157=) c.945T>A (p.Val315=) c.798T>A (p.Val266=) | |
| X | g.129562386T>C | CA518471048 | OCRL | c.*1234T>C (n.*1234T>C) c.1059T>C c.942T>C (p.Val314=) c.990T>C c.53T>C c.593T>C c.471T>C (p.Val157=) c.945T>C (p.Val315=) c.798T>C (p.Val266=) | |
| X | g.129562386T>G | CA518471049 | OCRL | c.*1234T>G (n.*1234T>G) c.1059T>G c.942T>G (p.Val314=) c.990T>G c.53T>G c.593T>G c.471T>G (p.Val157=) c.945T>G (p.Val315=) c.798T>G (p.Val266=) | |
| X | g.129562387C>A | CA414552453 | OCRL | c.*1235C>A (n.*1235C>A) c.1060C>A c.943C>A (p.Gln315Lys) c.991C>A c.54C>A c.594C>A c.472C>A (p.Gln158Lys) c.946C>A (p.Gln316Lys) c.799C>A (p.Gln267Lys) | gnomAD v4 |
| X | g.129562387C>G | CA414552454 | OCRL | c.*1235C>G (n.*1235C>G) c.1060C>G c.943C>G (p.Gln315Glu) c.991C>G c.54C>G c.594C>G c.472C>G (p.Gln158Glu) c.946C>G (p.Gln316Glu) c.799C>G (p.Gln267Glu) | |
| X | g.129562387C>T | CA414552455 | OCRL | c.*1235C>T (n.*1235C>T) c.1060C>T c.943C>T (p.Gln315Ter) c.991C>T c.54C>T c.594C>T c.472C>T (p.Gln158Ter) c.946C>T (p.Gln316Ter) c.799C>T (p.Gln267Ter) | ClinVar |
| X | g.129562388A= | CA2458099444 | OCRL | c.*1236A= (n.*1236A=) c.1061A= c.944A= (p.Gln315=) c.992A= c.55A= c.595A= c.473A= (p.Gln158=) c.947A= (p.Gln316=) c.800A= (p.Gln267=) | |
| X | g.129562388A>C | CA414552456 | OCRL | c.*1236A>C (n.*1236A>C) c.1061A>C c.944A>C (p.Gln315Pro) c.992A>C c.55A>C c.595A>C c.473A>C (p.Gln158Pro) c.947A>C (p.Gln316Pro) c.800A>C (p.Gln267Pro) | |
| X | g.129562388A>G | CA10512119 | OCRL | c.*1236A>G (n.*1236A>G) c.1061A>G c.944A>G (p.Gln315Arg) c.992A>G c.55A>G c.595A>G c.473A>G (p.Gln158Arg) c.947A>G (p.Gln316Arg) c.800A>G (p.Gln267Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562388A>T | CA414552457 | OCRL | c.*1236A>T (n.*1236A>T) c.1061A>T c.944A>T (p.Gln315Leu) c.992A>T c.55A>T c.595A>T c.473A>T (p.Gln158Leu) c.947A>T (p.Gln316Leu) c.800A>T (p.Gln267Leu) | |
| X | g.129562389A= | CA2458099445 | OCRL | c.*1237A= (n.*1237A=) c.1062A= c.945A= (p.Gln315=) c.993A= c.56A= c.596A= c.474A= (p.Gln158=) c.948A= (p.Gln316=) c.801A= (p.Gln267=) | |
| X | g.129562389A>C | CA414552458 | OCRL | c.*1237A>C (n.*1237A>C) c.1062A>C c.945A>C (p.Gln315His) c.993A>C c.56A>C c.596A>C c.474A>C (p.Gln158His) c.948A>C (p.Gln316His) c.801A>C (p.Gln267His) | |
| X | g.129562389A>G | CA518471056 | OCRL | c.*1237A>G (n.*1237A>G) c.1062A>G c.945A>G (p.Gln315=) c.993A>G c.56A>G c.596A>G c.474A>G (p.Gln158=) c.948A>G (p.Gln316=) c.801A>G (p.Gln267=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129562389A>T | CA414552459 | OCRL | c.*1237A>T (n.*1237A>T) c.1062A>T c.945A>T (p.Gln315His) c.993A>T c.56A>T c.596A>T c.474A>T (p.Gln158His) c.948A>T (p.Gln316His) c.801A>T (p.Gln267His) | |
| X | g.129562390C>A | CA414552460 | OCRL | c.*1238C>A (n.*1238C>A) c.1063C>A c.946C>A (p.Leu316Met) c.994C>A c.57C>A c.597C>A c.475C>A (p.Leu159Met) c.949C>A (p.Leu317Met) c.802C>A (p.Leu268Met) | gnomAD v4 |
| X | g.129562390C= | CA2458099446 | OCRL | c.*1238C= (n.*1238C=) c.1063C= c.946C= (p.Leu316=) c.994C= c.57C= c.597C= c.475C= (p.Leu159=) c.949C= (p.Leu317=) c.802C= (p.Leu268=) | |
| X | g.129562390C>G | CA414552461 | OCRL | c.*1238C>G (n.*1238C>G) c.1063C>G c.946C>G (p.Leu316Val) c.994C>G c.57C>G c.597C>G c.475C>G (p.Leu159Val) c.949C>G (p.Leu317Val) c.802C>G (p.Leu268Val) | ClinVar |
| X | g.129562390C>T | CA10512120 | OCRL | c.*1238C>T (n.*1238C>T) c.1063C>T c.946C>T (p.Leu316=) c.994C>T c.57C>T c.597C>T c.475C>T (p.Leu159=) c.949C>T (p.Leu317=) c.802C>T (p.Leu268=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562391T>A | CA414552462 | OCRL | c.*1239T>A (n.*1239T>A) c.1064T>A c.947T>A (p.Leu316Gln) c.995T>A c.58T>A c.598T>A c.476T>A (p.Leu159Gln) c.950T>A (p.Leu317Gln) c.803T>A (p.Leu268Gln) | |
| X | g.129562391T>C | CA414552463 | OCRL | c.*1239T>C (n.*1239T>C) c.1064T>C c.947T>C (p.Leu316Pro) c.995T>C c.58T>C c.598T>C c.476T>C (p.Leu159Pro) c.950T>C (p.Leu317Pro) c.803T>C (p.Leu268Pro) | |
| X | g.129562391T>G | CA414552464 | OCRL | c.*1239T>G (n.*1239T>G) c.1064T>G c.947T>G (p.Leu316Arg) c.995T>G c.58T>G c.598T>G c.476T>G (p.Leu159Arg) c.950T>G (p.Leu317Arg) c.803T>G (p.Leu268Arg) | |
| X | g.129562392G>A | CA518471060 | OCRL | c.*1240G>A (n.*1240G>A) c.1065G>A c.948G>A (p.Leu316=) c.996G>A c.59G>A c.599G>A c.477G>A (p.Leu159=) c.951G>A (p.Leu317=) c.804G>A (p.Leu268=) | |
| X | g.129562392G>C | CA518471061 | OCRL | c.*1240G>C (n.*1240G>C) c.1065G>C c.948G>C (p.Leu316=) c.996G>C c.59G>C c.599G>C c.477G>C (p.Leu159=) c.951G>C (p.Leu317=) c.804G>C (p.Leu268=) | |
| X | g.129562392G>T | CA518471062 | OCRL | c.*1240G>T (n.*1240G>T) c.1065G>T c.948G>T (p.Leu316=) c.996G>T c.59G>T c.599G>T c.477G>T (p.Leu159=) c.951G>T (p.Leu317=) c.804G>T (p.Leu268=) | |
| X | g.129562393del | CA2579697909 | OCRL | c.*1241del (n.*1241del) c.1066del c.949del (p.Val317CysfsTer6) c.997del c.60del c.600del c.478del (p.Val160CysfsTer6) c.952del (p.Val318CysfsTer6) c.805del (p.Val269CysfsTer6) | |
| X | g.129562393G>A | CA414552465 | OCRL | c.*1241G>A (n.*1241G>A) c.1066G>A c.949G>A (p.Val317Met) c.997G>A c.60G>A c.600G>A c.478G>A (p.Val160Met) c.952G>A (p.Val318Met) c.805G>A (p.Val269Met) | |
| X | g.129562393G>C | CA414552466 | OCRL | c.*1241G>C (n.*1241G>C) c.1066G>C c.949G>C (p.Val317Leu) c.997G>C c.60G>C c.600G>C c.478G>C (p.Val160Leu) c.952G>C (p.Val318Leu) c.805G>C (p.Val269Leu) | |
| X | g.129562393G>T | CA414552467 | OCRL | c.*1241G>T (n.*1241G>T) c.1066G>T c.949G>T (p.Val317Leu) c.997G>T c.60G>T c.600G>T c.478G>T (p.Val160Leu) c.952G>T (p.Val318Leu) c.805G>T (p.Val269Leu) | |
| X | g.129562394T>A | CA414552468 | OCRL | c.*1242T>A (n.*1242T>A) c.1067T>A c.950T>A (p.Val317Glu) c.998T>A c.61T>A c.601T>A c.479T>A (p.Val160Glu) c.953T>A (p.Val318Glu) c.806T>A (p.Val269Glu) | |
| X | g.129562394T>C | CA414552469 | OCRL | c.*1242T>C (n.*1242T>C) c.1067T>C c.950T>C (p.Val317Ala) c.998T>C c.61T>C c.601T>C c.479T>C (p.Val160Ala) c.953T>C (p.Val318Ala) c.806T>C (p.Val269Ala) | |
| X | g.129562394T>G | CA414552470 | OCRL | c.*1242T>G (n.*1242T>G) c.1067T>G c.950T>G (p.Val317Gly) c.998T>G c.61T>G c.601T>G c.479T>G (p.Val160Gly) c.953T>G (p.Val318Gly) c.806T>G (p.Val269Gly) | |
| X | g.129562395G>A | CA518471068 | OCRL | c.*1243G>A (n.*1243G>A) c.1068G>A c.951G>A (p.Val317=) c.999G>A c.62G>A c.602G>A c.480G>A (p.Val160=) c.954G>A (p.Val318=) c.807G>A (p.Val269=) | |
| X | g.129562395G>C | CA518471069 | OCRL | c.*1243G>C (n.*1243G>C) c.1068G>C c.951G>C (p.Val317=) c.999G>C c.62G>C c.602G>C c.480G>C (p.Val160=) c.954G>C (p.Val318=) c.807G>C (p.Val269=) | |
| X | g.129562395G>T | CA518471071 | OCRL | c.*1243G>T (n.*1243G>T) c.1068G>T c.951G>T (p.Val317=) c.999G>T c.62G>T c.602G>T c.480G>T (p.Val160=) c.954G>T (p.Val318=) c.807G>T (p.Val269=) | |
| X | g.129562396C>A | CA414552471 | OCRL | c.*1244C>A (n.*1244C>A) c.1069C>A c.952C>A (p.Arg318Ser) c.1000C>A c.63C>A c.603C>A c.481C>A (p.Arg161Ser) c.955C>A (p.Arg319Ser) c.808C>A (p.Arg270Ser) | ClinVar dbSNP |
| X | g.129562396C= | CA2458099447 | OCRL | c.*1244C= (n.*1244C=) c.1069C= c.952C= (p.Arg318=) c.1000C= c.63C= c.603C= c.481C= (p.Arg161=) c.955C= (p.Arg319=) c.808C= (p.Arg270=) | |
| X | g.129562396C>G | CA414552472 | OCRL | c.*1244C>G (n.*1244C>G) c.1069C>G c.952C>G (p.Arg318Gly) c.1000C>G c.63C>G c.603C>G c.481C>G (p.Arg161Gly) c.955C>G (p.Arg319Gly) c.808C>G (p.Arg270Gly) | |
| X | g.129562396C>T | CA266168 | OCRL | c.*1244C>T (n.*1244C>T) c.1069C>T c.952C>T (p.Arg318Cys) c.1000C>T c.63C>T c.603C>T c.481C>T (p.Arg161Cys) c.955C>T (p.Arg319Cys) c.808C>T (p.Arg270Cys) | ClinVar dbSNP COSMIC |
| X | g.129562397G>A | CA414552473 | OCRL | c.*1245G>A (n.*1245G>A) c.1070G>A c.953G>A (p.Arg318His) c.1001G>A c.64G>A c.604G>A c.482G>A (p.Arg161His) c.956G>A (p.Arg319His) c.809G>A (p.Arg270His) | ClinVar dbSNP |
| X | g.129562397G>C | CA414552474 | OCRL | c.*1245G>C (n.*1245G>C) c.1070G>C c.953G>C (p.Arg318Pro) c.1001G>C c.64G>C c.604G>C c.482G>C (p.Arg161Pro) c.956G>C (p.Arg319Pro) c.809G>C (p.Arg270Pro) | |
| X | g.129562397G>T | CA414552475 | OCRL | c.*1245G>T (n.*1245G>T) c.1070G>T c.953G>T (p.Arg318Leu) c.1001G>T c.64G>T c.604G>T c.482G>T (p.Arg161Leu) c.956G>T (p.Arg319Leu) c.809G>T (p.Arg270Leu) | |
| X | g.129562398C>A | CA518471075 | OCRL | c.*1246C>A (n.*1246C>A) c.1071C>A c.954C>A (p.Arg318=) c.1002C>A c.65C>A c.605C>A c.483C>A (p.Arg161=) c.957C>A (p.Arg319=) c.810C>A (p.Arg270=) | |
| X | g.129562398C= | CA2458099448 | OCRL | c.*1246C= (n.*1246C=) c.1071C= c.954C= (p.Arg318=) c.1002C= c.65C= c.605C= c.483C= (p.Arg161=) c.957C= (p.Arg319=) c.810C= (p.Arg270=) |